ACVRL1 c.1048G>C ;(p.G350R)

Variant ID: 12-52309284-G-C

NM_000020.2(ACVRL1):c.1048G>C;(p.G350R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: ACVRL1: 1048G>C; Gly350Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Functional analysis of saxophone, the Drosophila gene encoding the BMP type I receptor ortholog of human ALK1/ACVRL1 and ACVR1/ALK2.

Genetics
Twombly, Vern V; Bangi, Erdem E; Le, Viet V; Malnic, Bettina B; Singer, Matthew A MA; Wharton, Kristi A KA
Publication Date: 2009-10

Variant appearance in text: HHT2: G350R
PubMed Link: 19620392
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

The Journal Of Molecular Diagnostics : Jmd
Gedge, Friederike F; McDonald, Jamie J; Phansalkar, Amit A; Chou, Lan-Szu LS; Calderon, Fernanda F; Mao, Rong R; Lyon, Elaine E; Bayrak-Toydemir, Pinar P
Publication Date: 2007-04

Variant appearance in text: ACVRL1: 1048G>C
PubMed Link: 17384219
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Journal Of Medical Genetics
Prigoda, N L NL; Savas, S S; Abdalla, S A SA; Piovesan, B B; Rushlow, D D; Vandezande, K K; Zhang, E E; Ozcelik, H H; Gallie, B L BL; Letarte, M M
Publication Date: 2006-09

Variant appearance in text: ACVRL1: G350R
PubMed Link: 16690726
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics
Abdalla, S A SA; Letarte, M M
Publication Date: 2006-02

Variant appearance in text:
PubMed Link: 15879500
Variant Present in the following documents:
  • Main text
View BVdb publication page